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Welcome to the RaMeDiES wiki!

Here you will find details about

• Preparing your input variant data

as well as how to run our three statistical models

• Cohort-level de novo recurrence
• Cohort-level compound heterozygous variant recurrence
• Individual-level compound heterozygosity

and details about

• Pathways enriched for variants across patient subgroups

Meta-analyze your data with RaMeDiES!

Our statistical models operate at the level of mutational targets, enabling cross-cohort analyses of rare disease patients which will be essential for improved disease gene discovery and diagnosis!

⭐ We highly encourage you to share summary statistics of your rare disease cohort for this purpose! ⭐

Citation

SN Kobren*, MA Moldovan*, R Reimers, D Traviglia, X Li, D Barnum, A Veit, J Willett, M Berselli, W Ronchetti, R Sherwood, J Krier, IS Kohane, Undiagnosed Diseases Network, SR Sunyaev (2024). "Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations." bioRxiv. doi: 10.1101/2024.02.13.580158.

Contact

Please message Shilpa Kobren or Mikhail Moldovan at {first name}_{last name} at hms.harvard.edu if you have questions or are interested in contributing to a meta-analysis!